SLC1A5 solute carrier family 1 member 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 14 |
Likely benign | 0 | 10 |
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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74 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | AAAT |
SYNONYM | ASCT2 |
SYNONYM | ATBO |
SYNONYM | M7V1 |
SYNONYM | M7VS1 |
SYNONYM | R16 |
SYNONYM | RDRC |
MIM | 109190 OMIM |
HGNC | HGNC:10943 HGNC |
Ensembl | ENSG00000105281 Ensembl |
AllianceGenome | HGNC:10943 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000412532.6 | hg38 | chr19 | 46,774,924 | 46,787,342 | 12,419 |
ENST00000594991.5 | hg38 | chr19 | 46,774,885 | 46,784,905 | 10,021 |
ENST00000598022.2 | hg38 | chr19 | 46,775,257 | 46,784,803 | 9,547 |
ENST00000713951.1 | hg38 | chr19 | 46,774,883 | 46,784,945 | 10,063 |
ENST00000434726.6 | hg38 | chr19 | 46,774,885 | 46,784,824 | 9,940 |
ENST00000542575.6 | hg38 | chr19 | 46,774,883 | 46,788,594 | 13,712 |
ENST00000593713.2 | hg38 | chr19 | 46,774,883 | 46,784,786 | 9,904 |
ENST00000593713.2 | hg19 | chr19 | 47,278,140 | 47,288,043 | 9,904 |
ENST00000713951.1 | hg19 | chr19 | 47,278,140 | 47,288,202 | 10,063 |
ENST00000542575.6 | hg19 | chr19 | 47,278,140 | 47,291,851 | 13,712 |
ENST00000434726.6 | hg19 | chr19 | 47,278,142 | 47,288,081 | 9,940 |
ENST00000594991.5 | hg19 | chr19 | 47,278,142 | 47,288,162 | 10,021 |
ENST00000412532.6 | hg19 | chr19 | 47,278,181 | 47,290,599 | 12,419 |
ENST00000598022.2 | hg19 | chr19 | 47,278,514 | 47,288,060 | 9,547 |
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